R50H (p.Arg50His) variant of APOE (Apolipoprotein E)
R50H (p.Arg50His) in APOE (Apolipoprotein E) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs762461580
- NCI-TCGA Cosmic COSV9937
- ExAC rs762461580
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.47
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available